Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1B_chr9_137872782_138129619	138126339	G G	GCCCCCGG others(421): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0112 a0001c0003t0006g0112	1	248	0.0040	428	c.43 others(439): Show c.4340_*4341insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1721		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(421): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG01884.hp1 HG03139.hp1	a0004 a0006 a0004 a0006	a0004c0025 a0006c0042 a0004c0025 a0006c0042	a0004c0025t0013 a0006c0042t0032 a0004c0025t0013 a0006c0042t0032	a0004c0025t0013g0217 a0006c0042t0032g0079 a0004c0025t0013g0217 a0006c0042t0032g0079	2	248	0.0081	428	c.49 others(439): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39602014	T T	TTCCCTCC others(421): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTC TCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC TCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG01081.hp2 HG01257.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0004 a0008c0012t0003 a0008c0012t0004	a0008c0012t0003g0061 a0008c0012t0004g0062 a0008c0012t0003g0061 a0008c0012t0004g0062	2	236	0.0085	428	c.482 others(445): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602014	T T	TTCCCTCC others(421): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTC TCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC TCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG01361.hp2 others(4): Show HG00741.hp1 HG01358.hp1 HG01361.hp2 HG01978.hp2 HG02273.hp2 HG02976.hp2 HG03017.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0056 a0001c0001 a0004c0004 a0008c0056	a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 a0004c0004t0023 a0004c0004t0043 a0004c0004t0058 a0008c0056t0017	a0001c0001t0002g0060 a0001c0001t0011g0063 a0001c0001t0039g0121 others(4): Show a0001c0001t0002g0060 a0001c0001t0011g0063 a0001c0001t0039g0121 a0004c0004t0023g0057 a0004c0004t0043g0064 a0004c0004t0058g0070 a0008c0056t0017g0202	7	236	0.0297	428	c.482 others(445): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(421): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGAA GGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAG CGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGG GGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGG GGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGTGGG AGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAG GAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	234	0.0043	428	c.207 others(445): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTC CCCCTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCC GCTTCCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCC CTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCCC TTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCCCT TCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(421): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	1	142	0.0070	428	c.244 others(447): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(421): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATAATT ATATATTTTTATATATATAATTATATATATAATTTTATATATATATAATT ATATATAATTATATATATATAATTATATATTATATATATAATTATATATA TATATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATATAAAATTATATATATAATTTTATATATAAAA TTATATATATAATTTTATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATATAATTTTATATATATAATTATATATATATAATTTT ATATATATAATTATATATATATAATTTTATATATATATAATTATATATAA TTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0002 a0002c0004t0002 a0001c0007t0002 a0002c0004t0002	a0001c0007t0002g0028 a0002c0004t0002g0273 a0002c0004t0002g0274 a0001c0007t0002g0028 a0002c0004t0002g0273 a0002c0004t0002g0274	3	330	0.0091	428	c.907 others(443): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TTTATATATAAAATTATATATATAATTTTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATATAT ATATATAATTATATATATAATATATAATTATATATATATAATTATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAAATATATA ATTATATATATAATTATATATATATAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(421): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATTATATATATAATTATATA TATATATTATATATATAATTTTATATATATATAATTATATATATAATTTT ATATATATAATTATATATATATAAAATTATATATATAATTTTATATATAA AATTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATATAATTTTATATATATAATTATATATATAATTTT ATATATATAATTATATATATATAATTTTATATATATATAATTATATATAA TTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02717.hp2 others(2): Show HG01884.hp1 HG02486.hp1 HG02717.hp2 HG02922.hp1 HG03195.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0030 a0001c0001 a0002c0002 a0007c0030	a0001c0001t0002 a0002c0002t0002 a0007c0030t0002 a0001c0001t0002 a0002c0002t0002 a0007c0030t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(2): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0002c0002t0002g0022 a0007c0030t0002g0023	5	330	0.0152	428	c.907 others(443): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATAATTATATATATAAAATTATATATATATAATTATATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAATTT TATATATAAAATTATATATATAATTTTATATATATATAATTATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATATATAT ATATAATTATATATATAATATATAATTATATATATATAATTATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAAATATATAAT TATATATATATAATTATATATATATAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(421): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAA TTATATATATATAATTATATATATATAATTATATATTTTTATATATATAA TTATATATATAATTTTATATATATATAATTATATATAATTATATATATAT AATTATATATATTATATATATAATTATATATATATATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATAATTATATATAT AAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATAT ATATAATTATATATATAATTTTATATATATAATTATATATATATAATTTT ATATATATAATTATATATATATAATTTTATATATATATAATTATATATAA TTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	330	0.0030	428	c.907 others(443): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATAAT TATATATATAATTATATATATAAAATTATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(421): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAA TTATATATATATAATTATATATATATAATTATATATTTTTATATATATAA TTATATATATAATTTTATATATATATAATTATATATAATTATATATATAT AATTATATATATTATATATATAATTATATATATATATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATAATTATATATAT ATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATAATATTATATATATAATTTT ATATATATAATTATATATATAATTTTATATATATATAATTATATATAATT TTTATATTATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	330	0.0030	428	c.907 others(443): Show c.907+283_907+284insATTATATATATAATTATATATAATATAAAA ATTATATATAATTATATATATATAAAATTATATATATAATTATATATATA AAATTATATATATAATATTATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATAAT TATATATATAATTATATATATAAAATTATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(421): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAA TTATATATATATAATTATATATATATAATTATATATTTTTATATATATAA TTATATATATAATTTTATATATATATAATTATATATAATTATATATATAT AATTATATATATTATATATATAATTATATATATATATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATAATTATATATAT ATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATAATTATATATATAATTTTATATATATATAATTATATATAA TTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18975.hp1 NA18970.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0319 a0001c0001t0002g0162 a0001c0001t0002g0319	2	330	0.0061	428	c.907 others(443): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATAATTATATATATAAA ATTATATATATATAATTATATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATAAT TATATATATAATTATATATATAAAATTATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905890	A A	ATTATATA others(421): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTATATATAATATATATTATATATAA TATAATATATATTATATATAATATATATTATATAATATAATATATATTAT ATATAATATATATTATATTATATATAATATATATTATATATAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATTATATATAAAATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0003 a0015c0021t0003	a0015c0021t0003g0285 a0015c0021t0003g0285	1	288	0.0035	428	c.154 others(447): Show c.1546+1099_1546+1100insTTATATATAATATATATTATATTATA TATAATATATATTATATATAATATATATTATATATAATATATATTATATT ATATAATATATATTATATATAATATATATTATATTATATAATATATATTA TATATAATATATATTATATATAATATAATATATATTATATATAATATATA TTATATAATATAATATATATTATATATAATATATATTATATTATATATAA TATATATTATATATAATATATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATTATATATAAAATATATTAT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATTATATAAT AT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCACCA others(421): Show ACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTC CTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGC CCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGC CTGCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0028 a0001c0008t0001g0028	1	284	0.0035	428	c.411 others(445): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGAGGGGACA GGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCTC others(421): Show CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	256	0.0039	428	c.-45 others(449): Show c.-455+14579_-455+14580insCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT CCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881833	T T	TATAGATA others(421): Show TATAGATATATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATATATAGATA CATCTAGATAGATATATAGATACATCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	440	0.0023	428	c.13 others(439): Show c.1343_*1344insCTAGATGTATCTATATATCTATCTAGATGTATCT ATATATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTAT CTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGAT GTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCT ATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATAT CTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATATAGAT GTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATGTATCTATATATCTATATAGATGTATATATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		445		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(421): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	258	0.0039	428	c.403 others(443): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP251_chr12_121913592_122008919	121978400	A A	ATAAAAAT others(421): Show ATAAAAATAAATAAATAAATAAAAATAAAATAAAATAAAAACAAACAAAA AAACTAATTGATACCACATGGAATATGTGTTTGTATGCTATATTTTCCCT TAATAGTGTATCATAAGTATTTTCCATTATATTAAAAATTCTCCAAGGCC GGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAAAATACAAAAAATAAGCCGAGCGTGGTGGCGG GTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA GCCTGGGCGACAGAGCAAGACTCTGTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0347 a0001c0011t0001g0347	1	354	0.0028	428	c.300 others(447): Show c.3006+2715_3006+2716insTAAAAATAAATAAATAAATAAAAATA AAATAAAATAAAAACAAACAAAAAAACTAATTGATACCACATGGAATATG TGTTTGTATGCTATATTTTCCCTTAATAGTGTATCATAAGTATTTTCCAT TATATTAAAAATTCTCCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAA AAATAAGCCGAGCGTGGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTC TC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21			chr12	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(421): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03540.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0027 a0001c0003t0009g0028	2	346	0.0058	428	c.360 others(447): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGT GA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(421): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACTACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA21309.hp2 HG01257.hp1 HG01258.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0026 a0001c0003 a0001c0026	a0001c0003t0009 a0001c0026t0009 a0001c0003t0009 a0001c0026t0009	a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0026t0009g0031 a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0026t0009g0031	3	346	0.0087	428	c.360 others(447): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTAGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGT GA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNBD1_chr8_86861415_87387859	87136885	T T	TTATATTT others(421): Show TTATATTTATATTATATATAAATTATATATTATATTTATATTATATATAA ATTATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATAATATAAATATATATATTTATATTATATATAA ATTATATAATTTATATTATATATAAATATATATATTTATATTATATATAA ATATATATATTTATATTATATATAAATATATAATTTATATTATATATAAA TTATATAATTTATATTATATATAAATATATATATTTATATTATATATAAA TTATATAATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	152	0.0066	428	c.432 others(447): Show c.432-69067_432-69066insATATATAAATTATATATTTATATTAT ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTAT ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTAT ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTAT AATATAAATATATATATTTATATTATATATAAATTATATAATTTATATTA TATATAAATATATATATTTATATTATATATAAATATATATATTTATATTA TATATAAATATATAATTTATATTATATATAAATTATATAATTTATATTAT ATATAAATATATATATTTATATTATATATAAATTATATAATTTATATTAT ATATAAATATATATATTTATATTATATATAAATTATATATTATATTTATA TT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(421): Show TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCC CCCTCCTCTTCCTCCCCCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0186 a0001c0005t0022g0186	1	270	0.0037	428	c.162 others(449): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(421): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTAGCTCACTTGTGTGTG TGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGG GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGG GTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0128 a0004c0009t0003g0128	1	372	0.0027	428	c.100 others(445): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGGGAGGGCT GCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(421): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATACATGTGTGTATATGTGTATATACACATACACATATA TGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTA TATACACATACACATATATGTGTGTATATGTGTATATACACATACACATA TATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0176 a0005c0005t0001g0176	1	344	0.0029	428	c.88- others(445): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGT GTATATACACATACACATATATGTGTGTATATGTGTATATACACATACAC ATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATAT GTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(421): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0118 a0002c0015t0003g0118	1	272	0.0037	428	c.925 others(443): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGT GTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(421): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCG TGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGG GAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGA GTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAG GTGACCAGGGGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0008 a0016c0045t0008	a0016c0045t0008g0117 a0016c0045t0008g0117	1	128	0.0078	428	c.100 others(443): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGA CGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGT GAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGA TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG TGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE4_chr3_131528569_132040014	131978111	A A	ATATGTAA others(421): Show ATATGTAAATATATATAATATATTTATAATTATTATATATAATATATATA ATAAATTTACATATTTATATATATTTATATATTTTATATATATTTATATA AATATATATATTTATATATATTTTATATATATTTATATATATTTTATATA TATTTATATATATATTTATATATATTTATATTTATATATATATTTTTATA TATATTTATATATATTTATATTTATATATATATTTTTATATATTTATATA TATTTTTATATATTTATATATTTATATATATATTTATATATATATTTATA TTTATATATTTATATTTATATATATATATTTATATATTTATATATATTTA TATATATATTTTTATATATATATTTATATATATATTTATATATTTATATA TATTTTTATATATATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	94	0.0106	428	c.-2+ others(445): Show c.-2+56455_-2+56456insAAATATATATAAATATATATATAAAAAT ATATATAAATATATAAATATATATATAAATATATATATAAAAATATATAT ATAAATATATATAAATATATAAATATATATATATAAATATAAATATATAA ATATAAATATATATATAAATATATATATAAATATATAAATATATAAAAAT ATATATAAATATATAAAAATATATATATAAATATAAATATATATAAATAT ATATAAAAATATATATATAAATATAAATATATATAAATATATATATAAAT ATATATAAAATATATATAAATATATATAAAATATATATAAATATATATAT TTATATAAATATATATAAAATATATAAATATATATAAATATGTAAATTTA TTATATATATTATATATAATAATTATAAATATATTATATATATTTACATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRLF2_chrX_1185490_1217649	1198155	C C	CGAAGGCA others(421): Show CGAAGGCAGGACACCCTCCCTCCCACCTTCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTC CCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0080 a0002c0004t0001g0080	1	167	0.0060	428	c.646 others(443): Show c.646+406_646+407insTAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGAGGGTGTCCTGCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(421): Show ATATGTGTACATATATGTGTGTATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACACATATATGTGTACATATATGTGT GTATATGTATATACACACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATGTGTATATACACACACATATACACACATATATGT ACACATATATATGTGTATATACATATATACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACGTATATACACATATATGTAC ACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGT GTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	428	c.19 others(439): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTACATA TATGTGTGTATATGTGTGTGTATATACACATATATGTATATACACACACA TATACACACATATATGTACACATATATGTGTGTATATACATATACACACA TATATGTACACATATATGTGTGTATATACATATACACACATATATGTACA CATATATGTGTGTATATACATATACACACATATATGTACACATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(421): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTATATATGTATATACACATATATATGTG TACATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACG TATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG03491.hp1 NA19066.hp1 HG01169.hp1 HG03491.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	264	0.0114	428	c.19 others(439): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(421): Show ATATGTGTACATATATGTGTGTATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACACATATATGTGTACATATATGTGT GTATATGTATATACACACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATGTGTATATACACACACATATACACACATATATGT ACACATATATATGTGTATATACATATATACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACGTATATACACATATATGTAC ACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGT GTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	428	c.19 others(439): Show c.1955_*1956insTATGTGTACATATATGTGTGTATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACACATATATG TGTACATATATGTGTGTATATGTATATACACACATATATGTGTACATATA TGTGTGTATATGTGTGTGTATATACATATATGTGTATATACACACACATA TACACACATATATGTACACATATATATGTGTATATACATATATACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACATATATACACATATATGTACACATATATATGTGTATATACGTATA TACACATATATGTACACATATGTGTGTATATATGTGTGTATATACATATA TGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(421): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTATATATGTATATACACATATATATGTG TACATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACG TATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03471.hp1 HG03491.hp1 others(1): Show HG01167.hp1 HG03471.hp1 HG03491.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0001	4	272	0.0147	428	c.19 others(439): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTATATATGTATAT ACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATATACAT ATATGTGTATATACGTATATACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(421): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0116 a0002c0002t0003g0116	1	216	0.0046	428	c.923 others(447): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCC CTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCC TCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTC CC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(421): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	367	0.0027	428	c.-42 others(439): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(421): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAAACATCCATACCTAAACCCCCCCCACCTTCGACACCT AAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTATACCTCCACTT TCCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCAC ATCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCA CCTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCAC ACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAA ACCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0073 a0001c0011t0001g0074 a0001c0011t0001g0073 a0001c0011t0001g0074	2	204	0.0098	428	c.443 others(447): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAAACATCCATACCTAAACCCCCCCC ACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTC TATACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACC CCCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAACCCCCACC TTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATAC CTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCAC CTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTC CA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(421): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCCACCTTCGACACCT AAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTATACCTCCACTT TCCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCAC ATCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCA CCTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCAC ACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAA ACCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(119): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(5): Show a0001 a0004 a0006 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0008 a0001c0009 others(10): Show a0001c0001 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0022 a0004c0005 a0006c0007 a0008c0010 a0009c0020 a0010c0018 a0011c0017 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0008t0001 a0001c0009t0010 a0001c0012t0001 a0001c0014t0010 a0001c0022t0001 a0004c0005t0001 a0006c0007t0008 a0006c0007t0012 a0008c0010t0001 a0009c0020t0001 a0010c0018t0001 a0011c0017t0011 a0012c0016t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(119): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0086 a0001c0001t0002g0118 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0198 a0001c0001t0008g0115 a0001c0001t0008g0119 a0001c0001t0008g0143 a0001c0001t0011g0078 a0001c0001t0013g0043 a0001c0001t0013g0051 a0001c0001t0015g0128 a0001c0001t0015g0129 a0001c0001t0017g0127 a0001c0001t0018g0141 a0001c0001t0021g0096 a0001c0001t0022g0154 a0001c0008t0001g0183 a0001c0009t0010g0174 a0001c0009t0010g0176 a0001c0012t0001g0168 a0001c0012t0001g0169 a0001c0014t0010g0175 a0001c0022t0001g0014 a0004c0005t0001g0061 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0006c0007t0008g0059 a0006c0007t0012g0203 a0006c0007t0012g0204 a0008c0010t0001g0001 a0008c0010t0001g0002 a0009c0020t0001g0055 a0010c0018t0001g0080 a0011c0017t0011g0076 a0012c0016t0001g0105	122	204	0.5980	428	c.443 others(447): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCC ACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTC TATACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACC CCCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAACCCCCACC TTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATAC CTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCAC CTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTC CA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(421): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCCACCTTCGACACCT AAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTATACCTCCACTT TCCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCAC ATCTCAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCA CCTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCAC ACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAA ACCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	204	0.0049	428	c.443 others(447): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCC ACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTC TATACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACC CCCCACCTTCCACATCTCAATCCCCCACCTTCCACACCTAAACCCCCACC TTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATAC CTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCAC CTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTC CA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(421): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCCACCTTCGACACCT AAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTGTACCTCCACTT TCCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCAC ATCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCA CCTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCAC ACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAA ACCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01070.hp1 others(47): Show HG00280.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18947.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA19012.hp1 NA19081.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0021 others(3): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0003c0004 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0021t0003 a0002c0003t0004 a0002c0003t0019 a0002c0003t0020 a0003c0004t0007 a0003c0004t0023 a0007c0013t0014	a0001c0001t0001g0047 a0001c0001t0003g0166 a0001c0001t0004g0049 others(47): Show a0001c0001t0001g0047 a0001c0001t0003g0166 a0001c0001t0004g0049 a0001c0001t0004g0053 a0001c0001t0004g0099 a0001c0001t0004g0108 a0001c0001t0004g0199 a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0003g0003 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0173 a0001c0002t0006g0190 a0001c0002t0006g0193 a0001c0002t0006g0194 a0001c0002t0006g0195 a0001c0002t0006g0196 a0001c0002t0007g0170 a0001c0021t0003g0187 a0002c0003t0004g0012 a0002c0003t0004g0013 a0002c0003t0004g0015 a0002c0003t0004g0016 a0002c0003t0004g0017 a0002c0003t0004g0018 a0002c0003t0004g0020 a0002c0003t0004g0021 a0002c0003t0019g0019 a0002c0003t0020g0011 a0003c0004t0007g0030 a0003c0004t0007g0031 a0003c0004t0007g0089 a0003c0004t0007g0090 a0003c0004t0007g0091 a0003c0004t0007g0092 a0003c0004t0007g0093 a0003c0004t0023g0126 a0007c0013t0014g0103 a0007c0013t0014g0104	50	204	0.2451	428	c.443 others(447): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCC ACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTC TGTACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACC CCCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAACCCCCACC TTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATAC CTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCAC CTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTC CA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(421): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCATACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCCACCTTCGACACCT AAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTGTACCTCCACTT TCCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCAC ATCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCA CCTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCAC ACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAA ACCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03831.hp1 HG01081.hp1 HG03831.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0178 a0001c0008t0003g0184 a0001c0008t0003g0178 a0001c0008t0003g0184	2	204	0.0098	428	c.443 others(447): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCATACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCC ACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTC TGTACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACC CCCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAACCCCCACC TTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATAC CTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCAC CTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTC CA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14212344	A A	ATTTACTC others(421): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	148	0.0068	428	c.212 others(449): Show c.2123-34194_2123-34193insATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAG TAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAG TAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111926120	A A	AAAAGAAA others(421): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAAGAGAAAAAGAAAGAAAAAGAAG GAAGGAAGGCGGGCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACT ATCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAATACAATGAATAA ATAAATAAATAAGCCGAGCATGGTGGCGTGTCGCCTGTACTTCCAGCTAT TCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGT AGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCGACAGAGCGAGAC AAAGAAAAAAGAAAGAGAGAGAGAGAGAAAGAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	106	0.0094	428	c.106 others(447): Show c.1066+9419_1066+9420insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTTCTCTTTCTCTCTCTCTCTCTTTCTTTTTTC TTTGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTC ACTACAACCTCCGCCTCCCGGGTTCAAGTGATTCCCCTGCCTCAGCCTCC TGAATAGCTGGAAGTACAGGCGACACGCCACCATGCTCGGCTTATTTATT TATTTATTCATTGTATTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAG GATAGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTTGCCCGCCTTCC TTCCTTCTTTTTCTTTCTTTTTCTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCACTGC others(421): Show CTCACTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCTCCCTGCTCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	250	0.0040	428	c.-10 others(447): Show c.-107+5245_-107+5246insTCACTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTCCCTGC AG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556317	C C	CTATATAT others(421): Show CTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTG TATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	316	0.0032	428	c.355 others(447): Show c.355-25631_355-25630insTAGTATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTA TATATATAGTATATATAGTATATATGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(421): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGATGGAT GGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGATGGATGG GTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGAGATGGAT GGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGGGGAG GTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGATGGAA GGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGGATGTACAG AAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGATGGAT AGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	374	0.0027	428	c.772 others(443): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATAAA others(421): Show TATATAAATATATAAATATATTTATATAAATATATTTATATAAATATATA AATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATA AATATATTTATATAATATATTTATATAAATATATAAATATATTTATATAA ATATATAAATATATTTATATAAATATATAAATATATTTATATAAATATAT AAATATAAATATATTTATATAAATATATAAATATAAATATATTTATATAA ATATATAAATATAAATATATTTATATAAATATATAAATATAAATATATTT ATATAAATATATAAATATAAATATATTATATAAATATATTTATATTTATA TAATATATTTATATAAATATATAAATATAAATATATTTATATAAATATAT AAATATAAATATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	46	0.0217	428	c.279 others(447): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATTTATATATTTATATAAATATA TTATATAAATATAAATATATTTATATAATATATTTATATTTATATATTTA TATAAATATATTTATATTTATATATTTATATAAATATATTTATATTTATA TATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATATTTATATAAATATATTTATA TATTTATATAAATATATTTATATATTTATATAAATATATTATATAAATAT ATTTATATTTATATATTTATATAAATATATTTATATATTTATATAAATAT ATTTATATATTTATATAAATATATTTATATAAATATATTTATATATTTAT AT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(421): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACACACCACACACACCACACATGCACACCACACACATACACGCATACACC CATACACACACATCATACACACACACACCACACACATATACGCATACACC CATACACACACATCATACACACACATACACCACACACACCACACACGCAC ACCACACACATATACACACATACACCCATGCACACACATCATACACACAC AAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03041.hp2 NA20129.hp2 HG02895.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0207 a0001c0001t0001g0232 a0001c0001t0001g0049 a0001c0001t0001g0207 a0001c0001t0001g0232	3	414	0.0073	428	c.32 others(439): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGTGTGTG TATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGCA TGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGTG TGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGTATGGGTGT GTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(421): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATTAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATAAATATATATTTATATTTATTTATAA ATATATATTTATATTTATTTATATATAAATATATATAAATCTATATTTAT AGTTATTTATATATAAATATATAAATCTATATATATAAATATAGATTTAT ATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATAT ATAAATAACTATAAATATAGATTTATATATATTTATATATAAATAACTAT ATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATAT TTATATATAAATAACTATATAGATTTATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19060.hp1 HG03688.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0097 a0001c0001t0028g0154 a0001c0001t0003g0097 a0001c0001t0028g0154	2	208	0.0096	428	c.-97 others(445): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATTAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTTAT ATTTATTTATAAATATATATTTATATTTATTTATATATAAATATATATAA ATCTATATTTATAGTTATTTATATATAAATATATAAATCTATATATATAA ATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTAT ATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATAT ATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAG ATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(421): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATAT ACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATA TAGTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTAT ATACATGTATATAACATATAGTTATGTAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	256	0.0039	428	c.183 others(447): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATATAAGTATATGTTATATACATGTATATAATATAT AAGTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACA TG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(421): Show TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAAATATATATAATATATAAATATATATATAATATATAAATATATA TAATATATAAATATATATATAATATATAAATATATATAATATATAAATAT ATATATAATATATAAATATATATAATATATAAATATATATAATATATAAA TATATATATAATATATAAATTTATATATTTATATAATATATAATATATAA TAAAATAATATATATAATATATATATAAATTATATAATTATATAATATAA TATATATAAAATAATATATATAAAATAATTATATATAATATATAAATATA TATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	174	0.0058	428	c.199 others(445): Show c.199+1261_199+1262insATATATAAATATATATATAATATATAAA TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAAATATATATAATATATAAATATATATATAATATATAAATATATA TAATATATAAATATATATATAATATATAAATATATATAATATATAAATAT ATATAATATATAAATATATATATAATATATAAATTTATATATTTATATAA TATATAATATATAATAAAATAATATATATAATATATATATAAATTATATA ATTATATAATATAATATATATAAAATAATATATATAAAATAATTATATAT AATATATAAATATATATAATATATAAATATATATATAATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(421): Show GACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCTGGGACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCTCA CACCCCTGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	376	0.0027	428	c.-43 others(437): Show c.-430_-429insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCCCAGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(421): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGA GGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCA GGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTG GGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGG GGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAG GGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	282	0.0036	428	c.623 others(445): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTC AGGTGGGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGG CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGG AGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

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